Canonical Allele Identifier: CA414632304

Gene: OCRL

Linked Data

• MyVariant Identifiers: chrX:g.128723893A>C (hg19) ; chrX:g.129589916A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129589916A>C , CM000685.2:g.129589916A>C	GRCh38
NC_000023.10:g.128723893A>C , CM000685.1:g.128723893A>C	GRCh37
NC_000023.9:g.128551574A>C	NCBI36
NG_008638.1:g.54642A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000693473.1:c.2658A>C
ENST00000371113.9:c.2541A>C MANE Select	ENSP00000360154.4:p.Leu847Phe
ENST00000646010.1:c.2589A>C
ENST00000646914.1:c.1846A>C
ENST00000647245.1:c.2092A>C
ENST00000357121.5:c.2517A>C	ENSP00000349635.5:p.Leu839Phe
ENST00000371113.8:c.2541A>C	ENSP00000360154.4:p.Leu847Phe
ENST00000463271.1:n.328A>C
NM_000276.3:c.2541A>C	NP_000267.2:p.Leu847Phe
NM_001587.3:c.2517A>C	NP_001578.2:p.Leu839Phe
XM_005262422.1:c.2070A>C	XP_005262479.1:p.Leu690Phe
XM_011531342.1:c.2544A>C	XP_011529644.1:p.Leu848Phe
XM_011531343.1:c.2520A>C	XP_011529645.1:p.Leu840Phe
XM_011531344.1:c.2397A>C	XP_011529646.1:p.Leu799Phe
XM_011531345.1:c.2397A>C	XP_011529647.1:p.Leu799Phe
NM_001318784.1:c.2544A>C	NP_001305713.1:p.Leu848Phe
XM_005262422.2:c.2070A>C	XP_005262479.1:p.Leu690Phe
XM_011531344.3:c.2397A>C	XP_011529646.1:p.Leu799Phe
XM_011531345.3:c.2397A>C	XP_011529647.1:p.Leu799Phe
NM_000276.4:c.2541A>C MANE Select	NP_000267.2:p.Leu847Phe
NM_001318784.2:c.2544A>C	NP_001305713.1:p.Leu848Phe
NM_001587.4:c.2517A>C	NP_001578.2:p.Leu839Phe